Recent developments in rett syndrome research

Current Opinion in Psychiatry

Volumn 14, Issue 5, 2001, Pages 437-442

  Kerr, Alison Margaret ^a  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

BRAIN DISEASE; CHROMOSOME XQ; CLINICAL FEATURE; GENE EXPRESSION; GENE MUTATION; HUMAN; LEARNING DISORDER; MEDICAL RESEARCH; NONHUMAN; RETT SYNDROME; REVIEW; SEX DIFFERENCE; SURVIVAL;

EID: 0034883843     PISSN: 09517367     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001504-200109000-00003     Document Type: Review

References (61)

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl CpG binding protein 2
2. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
3. Uber ein eigenartiges hirnatrophisches syndrome bei hyperammonamie im kindsalter
4. The Rett syndrome diagnostic criteria work group. Diagnostic criteria for rett syndrome
5. Head growth in Rett syndrome
6. Is the girl with Rett syndrome normal at birth?
7. Early clinical signs in the Rett disorder
8. Rett variants: A suggested model for inclusion criteria
9. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations
10. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
11. Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
12. Rett syndrome: Analysis and clinical characterization of 31 patients
13. MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
14. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
15. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms
16. MECP2 mutations in Rett syndrome: Genotype and phenotype evaluation of 83 patients
17. Methyl-CpG binding protein 2 mutations in Rett syndrome
18. Human genetics: Methylation moves into medicine
19. Methyl-CpG binding proteins targeting specific gene repression
20. Rett syndrome: A surprising result of mutation in MECP2
21. Isolation, physical mapping and Northern analysis of the X-linked human gene encoding methyl Cpg-binding protein, MECP2
22. The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse
23. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
24. Methylation-induced repression belts, braces and chromatin
25. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
26. Deficiency of methyl-CpG binding protein-2 in CNS neurones results in a Rett-like phenotype in mice
27. DNA recognition by the methyl-CpG binding domain of MeCP2
28. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
29. Functional consequences of Rett syndrome mutations on human MeCP2
30. MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome
31. MECP2 mutations account for most cases of typical forms of Rett syndrome
32. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
33. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
34. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
35. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
36. X-linked genetic factors regulate hemopoietic stem-cell kinetics in females
37. High male:female ratio of germ-line mutations: An alternative explanation of postulated gestational lethality in males in X-linked dominant disorders
38. Parental origin of de novo MECP2 mutations in Rett syndrome
39. Family data in Rett syndrome: Association with other genetic disorders
40. A Rett syndrome patient with a ring X chromosome; further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease
41. Angelman syndrome phenotype associated with mutations in MECP2 a gene encoding a methyl CpG binding protein
42. MECP2 mutation in non-fatal non-progressive encephalopathy in a male
43. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
44. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
45. A case of multiple congenital anomalies in association with Rett syndrome confirmed by MeCP2 mutation screening
46. Rett syndrome in a boy with a 47 XXY karyotype
47. Two affected boys in a Rett syndrome family clinical and molecular findings
48. MECP2 mutation in male patients with non-specific mental retardation
49. A mutation in the Rett syndrome gene, MECP2 causes X-linked mental retardation and progressive spasticity in males
50. MECP2 is highly mutated in X-linked mental retardation
51. Rett syndrome: Analysis of deaths in the British Survey
52. Substance P immunoreactivity in Rett syndrome
53. Quantitative 1H MR spectroscopic imaging in early Rett syndrome
54. Decreased cerebrospinal fluid levels of beta phenylethylamine in patients with Rett syndrome
55. Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
56. A population based approach to the investigation of osteopenia in Rett syndrome
57. Guidelines for reporting clinical features in cases with MECP2 mutations
58. Epilepsy in a representative series of Rett syndrome
59. Rett syndrome: Randomised controlled trial of L-carnitine
60. Music and the Rett disorder: The Swedish Rett centre survey